2. Gene
  3. RBFOX1 - RNA binding fox-1 homolog 1 Gene

RBFOX1 - RNA binding fox-1 homolog 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RNA 结合 fox-1 同系物 1

种属: Homo sapiens

同用名: 2BP1; FOX1; A2BP1; FOX-1; HRNBP1

基因 ID: 54715 | 基因类型: protein coding

关于 RBFOX1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:5,239,738-7,713,340 (from NCBI)

This gene has 40 transcripts (splice variants), 178 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 11.3) and heart (RPKM 2.5).

功能概要

RNA 结合蛋白的 Fox-1 家族在进化上是保守的，并且在后生动物中调节组织特异性可变剪接。 Fox-1 识别受调节外显子或侧翼内含子中的 (U) GCAUG 拉伸。该蛋白与 ataxin-2 的 C 末端结合，可能导致 2 型脊髓小脑性共济失调 (SCA2) 的受限病理学。 Ataxin-2 是导致家族性神经退行性疾病的 SCA2 基因的产物。 Fox-1 和 ataxin-2 均位于跨高尔基体网络中。已经为该基因发现了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 11 月]

The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

RBFOX1 基因产物(9)

mRNA Protein Name
NM_001142333.2 NP_001135805.1 RNA binding protein fox-1 homolog 1 isoform 5
NM_001142334.2 NP_001135806.1 RNA binding protein fox-1 homolog 1 isoform 4
NM_001308117.1 NP_001295046.1 RNA binding protein fox-1 homolog 1 isoform 6
NM_001364800.2 NP_001351729.1 RNA binding protein fox-1 homolog 1 isoform 7
NM_001411047.1 NP_001397976.1 RNA binding protein fox-1 homolog 1 isoform 8
NM_018723.4 NP_061193.2 RNA binding protein fox-1 homolog 1 isoform 4
NM_145891.3 NP_665898.1 RNA binding protein fox-1 homolog 1 isoform 1
NM_145892.3 NP_665899.1 RNA binding protein fox-1 homolog 1 isoform 2
NM_145893.3 NP_665900.1 RNA binding protein fox-1 homolog 1 isoform 3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
10814712 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10814712 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
29358748 GOA
located in nuclear stress granule IDA
IDA: 通过直接分析推断
29358748 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
10814712 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RBFOX1 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (120 - 187)

Fox-1_C

Fox-1_C: Calcitonin gene-related peptide regulator C terminal (253 - 342)

  • 0
  • 100
  • 200
  • 300
  • 397 a.a.
蛋白主名 其他名称

RNA binding protein fox-1 homolog 1

RNA binding protein, fox-1 homolog 1

RBFOX1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra RBFOX1 Q9NWB1 RBPMS Homo sapiens Q93062
Y2H Prey Pooling
25416956
Intra RBFOX1 Q9NWB1 RBPMS Homo sapiens Q93062
Validated Y2H
25416956
Intra RBFOX1 Q9NWB1 RBFOX2 Homo sapiens O43251
Y2H
16713569
Intra RBFOX1 Q9NWB1 RBFOX2 Homo sapiens O43251
Pull Down
16713569
Intra RBFOX1 Q9NWB1 ATXN1 Homo sapiens P54253
Pull Down
16713569
Intra RBFOX1 Q9NWB1 ATXN1 Homo sapiens P54253
Y2H
16713569
Intra RBFOX1 Q9NWB1 QKI Homo sapiens Q96PU8
Pull Down
16713569
Intra RBFOX1 Q9NWB1 QKI Homo sapiens Q96PU8
Y2H
16713569
Intra RBFOX1 Q9NWB1 PSMF1 Homo sapiens Q92530
Pull Down
16713569
Intra RBFOX1 Q9NWB1 NUMBL Homo sapiens Q9Y6R0
Pull Down
16713569
Intra RBFOX1 Q9NWB1 PLEKHA5 Homo sapiens Q9HAU0
Pull Down
16713569
Intra RBFOX1 Q9NWB1 PLEKHA5 Homo sapiens Q9HAU0
Y2H Array
16713569
Intra RBFOX1 Q9NWB1 ATN1 Homo sapiens P54259
Y2H
16713569
Intra RBFOX1 Q9NWB1 ATN1 Homo sapiens P54259
Pull Down
16713569
Intra RBFOX1 Q9NWB1 C1orf94 Homo sapiens Q6P1W5
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2

SCA2

Amyotrophic Lateral Sclerosis 13

Spinocerebellar Degeneration With Slow Eye Movements

SDSEM

Spinocerebellar Atrophy Ii

Olivopontocerebellar Atrophy Ii

Opca2

Cerebellar Degeneration With Slow Eye Movements

Wadia-Swami Syndrome

Amyotrophic Lateral Sclerosis Type 13

ALS13

Olivopontocerebellar Atrophy Holguin Type

Spinocerebellar Ataxia Cuban Type

Olivopontocerebellar Atrophy, Holguin Type

Spinocerebellar Ataxia, Cuban Type

Amyotrophic Lateral Sclerosis, Susceptibility To, 13

Olivopontocerebellar Atrophy 2

Sca 2

Spinocerebellar Ataxia With Slow Eye Movements

Spinocerebellar Atrophy 2

Wadia Swami Syndrome

Opca Ii

Spinocerebellar Ataxia-2

Ataxia, Spinocerebellar, Type 2
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Conduct Disorder
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11724 RBFOX1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RBFOX1 VGNC VGNC:76507
Felis catus RBFOX1 VGNC VGNC:64516
Bos taurus RBFOX1 VGNC VGNC:33777
Mus musculus RBFOX1 MGD MGI:1926224
Canis familiaris RBFOX1 VGNC VGNC:45398
Rattus norvegicus RBFOX1 RGD RGD:1311210
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z